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Genetics Home Reference: your guide to understanding genetic conditions
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NLR gene family

Reviewed September 2008

What are the NLR genes?

Genes in the NLR family provide instructions for making proteins called nucleotide-binding domain and leucine-rich repeat containing (NLR) proteins, which are found in the fluid inside cells (cytoplasm). These proteins are involved in starting and regulating the immune system's response to injury, toxins, or invasion by microorganisms.

NLR proteins recognize specific molecules, some of which are found in the cell walls or other components of microorganisms. When an NLR protein recognizes them, it helps activate the immune system to fight the microorganisms.

Some NLR proteins initiate a process that releases transcription factors. Transcription factors are proteins that attach (bind) to specific regions of DNA and help control the activity of particular genes, such as certain genes related to the immune system. Other NLR proteins assemble themselves along with additional molecules into structures called inflammasomes, which are involved in the process of inflammation.

Inflammation occurs when the immune system sends signaling molecules as well as white blood cells to a site of injury or disease to fight microbial invaders and facilitate tissue repair. In some cases, inflammation can be triggered inappropriately and result in damage to the body's own cells and tissues, as seen in autoinflammatory diseases such as Crohn disease and sarcoidosis. Variations in NLR genes have been linked with a number of these disorders.

Which genes are included in the NLR gene family?

The HUGO Gene Nomenclature Committee (HGNC) provides a list of genes in the NLR family (http://www.genenames.org/genefamily/nlr.php).

Genetics Home Reference summarizes the normal function and health implications of these members of the NLR gene family: NLRP1, NLRP3, NLRP12, and NOD2.

What conditions are related to genes in the NLR gene family?

Genetics Home Reference includes these conditions related to genes in the NLR gene family:

  • autoimmune Addison disease
  • Blau syndrome
  • Crohn disease
  • familial cold autoinflammatory syndrome
  • Muckle-Wells syndrome
  • neonatal onset multisystem inflammatory disease
  • vitiligo

What glossary definitions help with understanding the NLR gene family?

cell ; cytoplasm ; DNA ; domain ; immune system ; inflammation ; injury ; leucine ; nucleotide ; protein ; sarcoidosis ; tissue ; transcription ; white blood cells

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

These sources were used to develop the Genetics Home Reference summary for the NLR gene family.

  • Macaluso F, Nothnagel M, Parwez Q, Petrasch-Parwez E, Bechara FG, Epplen JT, Hoffjan S. Polymorphisms in NACHT-LRR (NLR) genes in atopic dermatitis. Exp Dermatol. 2007 Aug;16(8):692-8. (http://www.ncbi.nlm.nih.gov/pubmed/17620097?dopt=Abstract)
  • Rosenstiel P, Till A, Schreiber S. NOD-like receptors and human diseases. Microbes Infect. 2007 Apr;9(5):648-57. Epub 2007 Jan 27. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17376727?dopt=Abstract)
  • Kaparakis M, Philpott DJ, Ferrero RL. Mammalian NLR proteins; discriminating foe from friend. Immunol Cell Biol. 2007 Aug-Sep;85(6):495-502. Epub 2007 Aug 7. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17680011?dopt=Abstract)
  • Carneiro LA, Magalhaes JG, Tattoli I, Philpott DJ, Travassos LH. Nod-like proteins in inflammation and disease. J Pathol. 2008 Jan;214(2):136-48. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18161746?dopt=Abstract)
  • Wilmanski JM, Petnicki-Ocwieja T, Kobayashi KS. NLR proteins: integral members of innate immunity and mediators of inflammatory diseases. J Leukoc Biol. 2008 Jan;83(1):13-30. Epub 2007 Sep 17. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17875812?dopt=Abstract)
  • Ye Z, Ting JP. NLR, the nucleotide-binding domain leucine-rich repeat containing gene family. Curr Opin Immunol. 2008 Feb;20(1):3-9. doi: 10.1016/j.coi.2008.01.003. Epub 2008 Feb 15. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18280719?dopt=Abstract)
  • Proell M, Riedl SJ, Fritz JH, Rojas AM, Schwarzenbacher R. The Nod-like receptor (NLR) family: a tale of similarities and differences. PLoS One. 2008 Apr 30;3(4):e2119. doi: 10.1371/journal.pone.0002119. (http://www.ncbi.nlm.nih.gov/pubmed/18446235?dopt=Abstract)
  • Shaw MH, Reimer T, Kim YG, Nuñez G. NOD-like receptors (NLRs): bona fide intracellular microbial sensors. Curr Opin Immunol. 2008 Aug;20(4):377-82. doi: 10.1016/j.coi.2008.06.001. Epub 2008 Jul 2. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18585455?dopt=Abstract)
  • Ting JP, Lovering RC, Alnemri ES, Bertin J, Boss JM, Davis BK, Flavell RA, Girardin SE, Godzik A, Harton JA, Hoffman HM, Hugot JP, Inohara N, Mackenzie A, Maltais LJ, Nunez G, Ogura Y, Otten LA, Philpott D, Reed JC, Reith W, Schreiber S, Steimle V, Ward PA. The NLR gene family: a standard nomenclature. Immunity. 2008 Mar;28(3):285-7. doi: 10.1016/j.immuni.2008.02.005. (http://www.ncbi.nlm.nih.gov/pubmed/18341998?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: September 2008
Published: October 20, 2014